Detalhe da pesquisa
1.
Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome.
Proc Natl Acad Sci U S A
; 119(8)2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165191
2.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
3.
Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6482-6504, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021263
4.
Europe's Roma people are vulnerable to poor practice in genetics.
Nature
; 599(7885): 368-371, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789896
5.
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.
Hum Mol Genet
; 26(8): 1511-1521, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28204507
6.
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Hum Mol Genet
; 25(3): 546-57, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647308
7.
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Genet Med
; 20(7): 728-736, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261175
8.
Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder.
Mol Psychiatry
; 26(5): 1442-1444, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461615
9.
Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6505, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234282
10.
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
J Med Genet
; 53(2): 138-44, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566883
11.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
12.
Investigation of SHANK3 in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 390-398, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371232
13.
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
Hum Mol Genet
; 23(6): 1619-30, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186869
14.
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
Basic Res Cardiol
; 111(3): 36, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138930
15.
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
J Hum Genet
; 61(10): 867-872, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27305979
16.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Am J Hum Genet
; 90(5): 879-87, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503632
17.
Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.
Dev Dyn
; 243(5): 629-39, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24347445
18.
Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.
Stem Cell Res
; 69: 103089, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37028180
19.
Identification of novel genes including NAV2 associated with isolated tall stature.
Front Endocrinol (Lausanne)
; 14: 1258313, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152138
20.
The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.
Hum Genet
; 131(11): 1687-98, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22736078